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• PDE6A gene
• Posted: 2008-03-28 20:04:32 By maris s
• Has anyone heard of the gene PDE6A? can one have both RP and CME? have researching on the topic and they all in essay form.
  Please help.

• Re: PDE6A gene
• Posted: 2008-03-29 11:26:43 By Darran Z
• The PDE6a (phosphodiestrese 6a) is a protien in the rods. It is primarily a transductor and participates in the process of transmission and amplification of the visual signal.
  
  An PDE6A mutation is also an autosomal recessive RP.
  
  But I'm unsure of your question about this gene and your RP-CME linkage. CME is not linked to any gene. PDE6A mutation is a cause of RP (autosomal recessive). Any form of RP does create an increased risk of other eye conditions such as CME and it regularly happens to affect those with RP. But CME, as last I heard, has an unknown causa. People who have normal retinas also develop CME. CME is also can develop after cataract surgery.
  
  So yes, CME can take place with RP. Many posts here talk about this. But the problem is, CME treatment varies widely as each person reacts differently. Some people do well with Diamox others do not and require more aggressive forms of treatment including an eye injection.
  
  Darran

• Re: Re: PDE6A gene
• Posted: 2008-03-29 22:53:54 By maris s
• Thanks Darran for the answer, this gene is what they found to cause my daughters RP and also the the Dr wrote fundus @CME which did confuse me a bit. They only found this one gene but they may do another test in the future to see if there are other genes involved. So it's possible she has develop CME. I will read the old post and thanks again for the input.
  Maris

• Re: Re: Re: PDE6A gene
• Posted: 2008-03-30 03:13:20 By Darran Z
• Why would they do another test to identify another gene if they already did so? It makes no sense. PDE6A is an autosomal recessive gene inheritance pattern, which means your daughter recieved the PDE6A from you and her father and she got two PDE6A genes that causes the RP. The reason that you and her father do not have RP is because you have one recessive gene and one dominant (normal) gene and the dominant gene is what is exhibiting itself.
  
  But CME will happen in ALL RP forms, including Usher (which is what I have and I have had CME). Usher is always autosomal recessive and there are different genes associated with this and it isn't PDE6A.
  
  CME always occurs on the macula, which the fundus is the very central part of the macula, thus it being called Cystiod Macular Edema because the edema looks like cysts.
  
  Darran

• Re: Re: Re: Re: PDE6A gene
• Posted: 2008-03-31 13:32:28 By maris s
• Darran,
  That's what the Dr said that the only found one gene so they might have to do another test in the future. So she does have CME as per the Dr's note.
  Thanks again for the reply

• Re: Re: Re: Re: Re: PDE6A gene
• Posted: 2008-03-31 13:37:31 By Darran Z
• It only takes one gene to cause RP. :) Not sure why they would investigate further. That seems abnormal. But it's unlikely that multiple genes of RP be found in one person. If you understand genetics, then you will know it will only be one gene to cause it.
  
  Have you read the publication the FFB has called "Inheritance patterns of retinal degeneration"? Click on Publications at the top on the main page and you should see it listed. This may help you understand the genetics a little better.
  
  Darran